You must complete the following:
(Include the number of the question)
1. Name of the genetic disease
- Turner's Syndrome
2. Symptoms of disease
- Short stature
- Lymphedema (swelling) of the hands and feet
- Broad chest (shield chest) and widely spaced nipples
- Low hairline
- Low-set ears
- Reproductive sterility
- Rudimentary ovaries gonadal streak (underdeveloped gonadal structures)
- Amenorrhoea, or the absence of a menstrual period
- Increased weight, obesity
- Shield shaped thorax of heart
- Shortened metacarpal IV
- Small fingernails
- Characteristic facial features
- Webbed neck from cystic hygroma in infancy
- Coarctation of the aorta
- Bicuspid aortic valve
- Poor breast development
3. When is the disease usually detected... at birth or later in life?
- Turner's Syndrome is usually detected during pregnancy.
4. Frequency of carriers of this disease in the population
- About 1-2000 women per year.
5. Frequency of disease in the population
- About 1-2000 women.
6. Mode of inheritance. Is disease dominant, recessive, sex-linked or due to non-disjunction?
- This disease is dominant.
7. Is disease autosomal ( on the first 22 pairs of chromosomes), or is it on the X-linked or sex chromosomes?
- When the X chromosome is not paired with the another X or Y chromosome.
8. What chromosome number has been determined to carry this gene?
- The X chromosome.
9. What treatment, if any, is used for this disease? How does the treatment affect the disease?
- As of now, there is not cure for the disease. But they can inject women with estrogen to in hanse secondary sex characteristics.
10. What is the prognosis or outlook for your baby's recovery?
- While most of the physical findings are harmless, there can be significant medical problems associated with the syndrome.
11. What future techniques might be used to correct or eliminate your baby's disease?
- Modern reproductive technologies have also been used to help women with Turner syndrome become pregnant if they desire. For example, a donor egg can be used to create an embryo, which is carried by the Turner syndrome woman.
12. Discuss in detail what difficulties, if any, a parent would encounter in raising a child with this disease.
- If you child were to have Turner's Syndrome, they can become obese, have webbed neck and feet will be swollen. They will most likely have a tough time in school due to them looking different than the average child. Surgery would be almost a must need to get rid of the swollen feet and webbed neck. Rasing a child with Turner's Syndrome will be very tough.
13. Include diagrams of your child or factors related to your disease.
You must complete the following:
(Include the number of the question)
1. Name of the genetic disease
- Turner's Syndrome
2. Symptoms of disease
- Short stature
- Lymphedema (swelling) of the hands and feet
- Broad chest (shield chest) and widely spaced nipples
- Low hairline
- Low-set ears
- Reproductive sterility
- Rudimentary ovaries gonadal streak (underdeveloped gonadal structures)
- Amenorrhoea, or the absence of a menstrual period
- Increased weight, obesity
- Shield shaped thorax of heart
- Shortened metacarpal IV
- Small fingernails
- Characteristic facial features
- Webbed neck from cystic hygroma in infancy
- Coarctation of the aorta
- Bicuspid aortic valve
- Poor breast development
3. When is the disease usually detected... at birth or later in life?
- Turner's Syndrome is usually detected during pregnancy.
4. Frequency of carriers of this disease in the population
- About 1-2000 women per year.
5. Frequency of disease in the population
- About 1-2000 women.
6. Mode of inheritance. Is disease dominant, recessive, sex-linked or due to non-disjunction?
- This disease is dominant.
7. Is disease autosomal ( on the first 22 pairs of chromosomes), or is it on the X-linked or sex chromosomes?
- When the X chromosome is not paired with the another X or Y chromosome.
8. What chromosome number has been determined to carry this gene?
- The X chromosome.
9. What treatment, if any, is used for this disease? How does the treatment affect the disease?
- As of now, there is not cure for the disease. But they can inject women with estrogen to in hanse secondary sex characteristics.
10. What is the prognosis or outlook for your baby's recovery?
- While most of the physical findings are harmless, there can be significant medical problems associated with the syndrome.
11. What future techniques might be used to correct or eliminate your baby's disease?
- Modern reproductive technologies have also been used to help women with Turner syndrome become pregnant if they desire. For example, a donor egg can be used to create an embryo, which is carried by the Turner syndrome woman.
12. Discuss in detail what difficulties, if any, a parent would encounter in raising a child with this disease.
- If you child were to have Turner's Syndrome, they can become obese, have webbed neck and feet will be swollen. They will most likely have a tough time in school due to them looking different than the average child. Surgery would be almost a must need to get rid of the swollen feet and webbed neck. Rasing a child with Turner's Syndrome will be very tough.
13. Include diagrams of your child or factors related to your disease.